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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825200723
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3070754
ClinVar RCV Id:
RCV004013264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.His2441Asp
CA069482
NM_000540.3:c.7321C>G